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Basal cell nevus syndrome is an autosomal dominant condition with complete penetrance and variable expressivity. It is characterized by five major components, including multiple nevoid basal cell carcinomas, jaw cysts, congenital skeletal abnormalities, ectopic calcifications, and plantar or palmar pits. Other features include a host of benign tumors, ocular defects, and cleft lip and palate. Guidelines for diagnosis include a family history, careful oral and skin examinations, chest and skull radiographs, panoramic radiographs of the jaw, magnetic resonance imaging of the brain, and pelvic ultrasonography in women. (Am Fam Physician 2002;65:2501-4. 2002 American Academy of Family Physicians.) GEORGE J. BITAR, M.D., Fairfax, Virginia CHARLES K. HERMAN, M.D., Albert Einstein College of Medicine, Bronx, New York MOHAMMED I. DAHMAN, M.D., Ain Shams University, Cairo, Egypt MARTIN A. HOARD, M.D., University of Virginia, Charlottesville, Virginia aka Gorlin's Syndrome

Basal Cell Nevus Syndrome BCNS NEVOID BASAL CELL CARCINOMA SYNDROME; NBCCS MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES FIFTH PHACOMATOSIS GORLIN SYNDROME GORLIN-GOLTZ SYNDROME HYDROCEPHALUS, COSTOVERTEBRAL DYSPLASIA, AND SPRENGEL ANOMALY, INCLUDED

The syndrome is an autosomal dominant with incomplete penetrance. It is an ectodermal disorder and is characterised by: Basal cell naevi, over upper torso and shoulders with a risk of malignant change, particularly over the face. Odontogenic cysts. Bifid ribs and occasionally spina bifida calcification of the falx and sometimes in other soft tissues There is an associated increased incidence of ovarian fibromas.

"The so-called basal cell naevi are actually tiny basal cell carcinomas." Review from Dermatology perspective

Gorlin syndrome is an autosomal dominant cancer. Patients with this rare syndrome often have several organ anomalies, many of which are subtle. Study of patients with Gorlin syndrome yields useful information about its neural development and carcinogenesis. Clinicians should be familiar with Gorlin syndrome because patients tend to develop multiple neoplasms, including basal cell carcinomas and medulloblastoma, and because patients are extremely sensitive to ionizing radiation, including sunlight. The presence of multiple abnormalities of the skin, skeleton, and nervous system have led some to call Gorlin syndrome the fifth phakomatosis. The syndrome has also been referred to as basal cell nevus syndrome. However, the "nevi" in basal cell nevus syndrome are true basal cell carcinomas; therefore, use of this name is discouraged
Synonyms and related keywords: Gorlin syndrome, Gorlin's syndrome, basal cell nevus syndrome, nevoid basal cell carcinoma syndrome, NBCCS, basal cell carcinoma, medulloblastoma, fifth phakomatosis, nevi, patched gene, PTCH
Author: Andrew W Walter, MS, MD 2006

Introduction Clinical Differentials Workup Treatment Follow-up Pictures Bibliography Author: Daniel Berg, MD, Program Director of Dermatologic Surgery, Associate Professor, Department of Internal Medicine, Division of Dermatology, University of Washington 2005

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